Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.P167S
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NOTCH3

NM_000435.3:p.P167S

Associated Papers

Assessment of Small Vessel Density Changes in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalophy (CADASIL) by High-Resolution Black-Blood MRI.

Yang Z et al.

Journal of Magnetic Resonance Imaging : Jmri, 2026

40838861 (PubMed )
Supplement: JMRI-63-157-s001.pdf

Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.

Fava VM et al.

Scientific Reports, 2025

41430073 (PubMed )
Supplement: 41598_2025_30734_MOESM2_ESM.xlsx › Variants

CADASIL or NOTCH3 mutaion spectrum diseases? Interpretation of NOTCH3 mutations and clinical heterogeneity in CADASIL.

Wang Y et al.

Frontiers in Neurology, 2025

Phenotypes Associated with NOTCH3 Cysteine-Sparing Mutations in Patients with Clinical Suspicion of CADASIL: A Systematic Review.

Cao Y et al.

International Journal of Molecular Sciences, 2024

First report of a p.Cys484Tyr Notch3 mutation in a CADASIL patient with acute bilateral multiple subcortical infarcts-case report and brief review.

Liu W et al.

Bmc Neurology, 2024

Genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients in different populations.

Ni W et al.

Cns Neuroscience & Therapeutics, 2022

Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Yu H et al.

Frontiers in Oncology, 2022

36072793 (PubMed )
Supplement: Table_2.xlsx › germline_alterations

Rare NOTCH3 Variants in a Chinese Population-Based Cohort and Its Relationship With Cerebral Small Vessel Disease.

Liu JY et al.

Stroke, 2021

The role of NOTCH3 variants in Alzheimer's disease and subcortical vascular dementia in the Chinese population.

Guo L et al.

Cns Neuroscience & Therapeutics, 2021

CADASIL vs. Multiple Sclerosis: Is It Misdiagnosis or Concomitant? A Case Series.

Khan A et al.

Frontiers in Neurology, 2020

Clinical Features of 4 Novel NOTCH3 Mutations of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy in China.

Qin W et al.

Medical Science Monitor Basic Research, 2019

Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Lee JW et al.

Plos One, 2019

31747416 (PubMed )
Supplement: pone.0224227.s002.xlsx › SNV

Location, number and factors associated with cerebral microbleeds in an Italian-British cohort of CADASIL patients.

Nannucci S et al.

Plos One, 2018

29370179 (PubMed )
Supplement: pone.0190878.s001.xls › CMB_database

Possible Role of a Missense Mutation of p.P167S on NOTCH3 Gene Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.

Choi BW et al.

Dementia and Neurocognitive Disorders, 2016

NOTCH3 variants in patients with subcortical vascular cognitive impairment: a comparison with typical CADASIL patients.

Yoon CW et al.

Neurobiology of Aging, 2015

[CADASIL: a case series of 11 patients].

Vázquez do Campo R et al.

Revista De Neurologia, 2011

Report of two Chinese families and a review of Mainland Chinese CADASIL patients.

Yin XZ et al.

Journal of the Neurological Sciences, 2009

Genetics of ischemic stroke: inheritance of a sporadic disorder.

Ross OA et al.

Current Neurology and Neuroscience Reports, 2009

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: two novel mutations in the NOTCH3 gene in Chinese.

Lee YC et al.

Journal of the Neurological Sciences, 2006

Small artery dementia in Japan: radiological differences between CADASIL, leukoaraiosis and Binswanger's disease.

Tomimoto H et al.

Dementia and Geriatric Cognitive Disorders, 2006

The spectrum of Notch3 mutations in 28 Italian CADASIL families.

Dotti MT et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2005

[Japanese CADASIL case with limited dementia who had the Notch 3 R141C mutation].

Ishibashi K et al.

No to Shinkei = Brain and Nerve, 2005

Yield of screening for CADASIL mutations in lacunar stroke and leukoaraiosis.

Dong Y et al.

Stroke, 2003

Screening for CADASIL mutations.

Inzitari D et al.

Stroke, 2003

[Role of missense mutation (M235T) in the angiotensinogen gene in development of cerebral ischemia].

Skvortsova VI et al.

Molekuliarnaia Genetika, Mikrobiologiia I Virusologiia, 2003

Diagnostic strategies in CADASIL.

Markus HS et al.

Neurology, 2002

No association between multiple sclerosis and the Notch3 gene responsible for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Broadley SA et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2001

Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content.

Escary JL et al.

Human Mutation, 2000

Description of a simple test for CADASIL disease and determination of mutation frequencies in sporadic ischaemic stroke and dementia patients.

Wang T et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2000

No evidence of germline PTEN mutations in familial prostate cancer.

Forrest MS et al.

Journal of Medical Genetics, 2000

Characteristics of CADASIL in Chinese mainland patients.

Tan QC et al.

Neurology India, 0

Evaluation of NOTCH3 Pro167Ser Variation in a Japanese Family with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.

Mizuno T et al.

Dementia and Geriatric Cognitive Disorders Extra, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."